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Article

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Human molecular genetics - 1 May 2013

Nguyen Lam S, Kim Hyung-Goo, Rosenfeld Jill A, Shen Yiping, Gusella James F, Lacassie Yves, Layman Lawrence C, Shaffer Lisa G, Gécz Jozef

Abstract excerpt

The nonsense-mediated mRNA decay (NMD) pathway functions not only to degrade transcripts containing premature termination codons (PTC), but also to regulate the transcriptome. UPF3B and RBM8A, important components of NMD, have been implicated in various forms of intellectual disability (ID) and Thrombocytopenia with Absent Radius (TAR) syndrome, which is also associated with ID. To gauge the contribution of other...

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Source

Identifiers

PMID: 23376982
DOI: 10.1093/hmg/ddt035

Genes

UPF2
RNPS1
SMG6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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